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Mevalonate kinase deficiency (MKD) is an autosomal recessive [2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. [3] It is a rare genetic disorder, but a high frequency is observed in Northern European regions.
mevalonate-3-phosphate-5-kinase: Mevalonate-3-phosphate is phosphorylated at the 5-OH position to yield mevalonate-5-phosphate (also called phosphomevalonic acid). 1 ATP is consumed. phosphomevalonate kinase: mevalonate-5-phosphate is phosphorylated to yield mevalonate-5-pyrophosphate. 1 ATP is consumed. mevalonate-5-pyrophosphate decarboxylase
Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene. [ 6 ] [ 7 ] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:
An excellent review on regulation of the mevalonate pathway by Nobel Laureates Joseph Goldstein and Michael Brown adds specifics: HMG-CoA reductase is phosphorylated and inactivated by an AMP-activated protein kinase, which also phosphorylates and inactivates acetyl-CoA carboxylase, the rate-limiting enzyme of fatty acid biosynthesis. [37]
Galactokinase does not belong to the sugar kinase family, but rather to a class of ATP-dependent enzymes known as the GHMP superfamily. [10] GHMP is an abbreviation referring to its original members: galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase. Members of the GHMP superfamily have great three-dimensional ...
In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many ...
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Phosphomevalonate kinase is an enzyme (EC 2.7.4.2) in the mevalonate pathway [5] [6] [7] that in humans is encoded by the PMVK gene. Mevalonate pathway References
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